U24HG013077

Clinical Implementation Resources for Pharmacogenomics (CIRP) - 7. Project Summary/Abstract

The success of precision medicine continues to rest on our ability to measure the genome, the environment, and the physiological state of patients; then choose interventions that maximize efficacy and minimize adverse effects.

A key component of precision medicine is to understand pharmacogenomics (PGx) — the genetic influences on interindividual drug response variability. Two million adverse drug reactions occur annually in the United States, which results in roughly 100,000 deaths and costs upwards of $30 billion dollars each year.

Approximately 15%-20% of FDA-approved medications are impacted by common germline genetic variation, and their effectiveness and safety can be improved by using genetic tests to guide prescribing. Many of these hospitalizations and deaths are preventable, prompting many health care organizations, community, and academic medical centers to invest in genomic medicine implementation by supporting PGx decision support and returning PGx results.

For over 10 years, CPIC has provided critical resources to translate patient genotypes into evidence-based prescribing recommendations for specific drugs. Based on these important clinical guidelines, the Pharmacogenomics Clinical Annotation Tool (PharmCAT) provides the scientific and clinical communities the ability to annotate raw genetic test data (genotypes, DNA sequence) with standardized PGx calls, knowledge from the clinical guidelines and report the subsequent haplotypes, diplotypes, and phenotypes with appropriate clinical guidance via a user-friendly software pipeline.

CPIC coupled with the PharmCAT software enable the global clinical implementation of PGx in precision medicine programs.

In this proposal, we outline our plan to develop the Clinical Implementation Resources for Pharmacogenomics (CIRP) to accelerate clinical implementation of PGx research discoveries. We will accomplish this plan by continuing the development of CPIC clinical guidelines and supporting evidence which are then applied to genetic test results by PharmCAT for result translation and the subsequent clinical implementation of PGx.

The track record of CPIC (2009) and PharmCAT (2017) in collaboration with the PharmGKB (2000) in serving the broad scientific and clinical community is exceptional.

In this proposal, we request support to advance the CIRP in support of genome-informed medicine and outline a plan to (1) develop and utilize innovative approaches to create, expand, and update CPIC guidelines (2) integrate CPIC, FDA, and other publicly available guidelines through PharmCAT and (3) disseminate PGx clinical implementation content and tools to the greater scientific community for local and cloud-based usage.

The Leland Stanford Junior University

NHGRI SUPPORTS THE DEVELOPMENT OF RESOURCES AND TECHNOLOGIES THAT WILL ACCELERATE GENOME RESEARCH AND ITS APPLICATION TO HUMAN HEALTH AND GENOMIC MEDICINE. A CRITICAL PART OF THE NHGRI MISSION CONTINUES TO BE THE STUDY OF THE ETHICAL, LEGAL AND SOCIAL IMPLICATIONS (ELSI) OF GENOME RESEARCH. NHGRI ALSO SUPPORTS THE TRAINING AND CAREER DEVELOPMENT OF INVESTIGATORS AND THE DISSEMINATION OF GENOME INFORMATION TO THE PUBLIC AND TO HEALTH PROFESSIONALS. THE SMALL BUSINESS INNOVATION RESEARCH (SBIR) PROGRAM IS USED TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, TO INCREASE SMALL BUSINESS PARTICIPATION IN FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION. THE SMALL BUSINESS TECHNOLOGY TRANSFER (STTR) PROGRAM IS USED TO FOSTER SCIENTIFIC AND TECHNOLOGICAL INNOVATION THROUGH COOPERATIVE RESEARCH AND DEVELOPMENT CARRIED OUT BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO FOSTER TECHNOLOGY TRANSFER BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION.

93.172 - Human Genome Research

National Human Genome Research Institute (NHGRI) [HHS - NIH]

Stanford, California 943054125 United States

Single Zip Code

Genomic Community Resources (U24 Clinical Trial Not Allowed) (PAR-20-100)

Amendment Since initial award the total obligations have increased 196% from $1,500,000 to $4,439,999.